KCNH2 c.940G>A ;(p.G314S)

Variant ID: 7-150654567-C-T

NM_000238.3(KCNH2):c.940G>A;(p.G314S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT2: G314S
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Indian Pacing And Electrophysiology Journal
Saprungruang, Ankavipar A; Khongphatthanayothin, Apichai A; Mauleekoonphairoj, John J; Wandee, Pharawee P; Kanjanauthai, Supaluck S; Bhuiyan, Zahurul A ZA; Wilde, Arthur A M AAM; Poovorawan, Yong Y
Publication Date: 2018

Variant appearance in text: KCNH2: 940G>A
PubMed Link: 30036649
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: KCNH2: G314S; rs199473504
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16

Variant appearance in text: LQT2: 940G>A
PubMed Link: 26675252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Hofman, N N; Jongbloed, R R; Postema, P G PG; Nannenberg, E E; Alders, M M; Wilde, A A M AA
Publication Date: 2011-01

Variant appearance in text: KCNH2: Gly314Ser
PubMed Link: 21350584
Variant Present in the following documents:
  • 12471_2010_Article_46.pdf
View BVdb publication page